The mean age of clinical presentation was 5.8 months (range: 1 day-26 months). Seven (15%) of the patients presented in the neonatal period. [pediatrics.aappublications.org]

These long chain defects have variable presentations, they may present in the neonate or infant with sudden death, hepatopathy (Reyes disease), hypoketotic hypoglycaemia, rhabdomyolysis, myopathy, cardiomyopathy and with late complications such as peripheral [pediatricfocus.wordpress.com]

Age Patients with LCHAD activity deficiency usually present with hypoketotic hypoglycemia, cardiomyopathy, hypotonia, and hepatomegaly at a median age of 6 months. In childhood, the presentation is myopathic. [emedicine.medscape.com]

We used single-stranded conformation variance analysis of the exons of the human LCHAD (α subunit) gene to determine the molecular basis of LCHAD deficiency in three families with children presenting with sudden unexplained death or hypoglycemia and abnormal [uthscsa.influuent.utsystem.edu]

• HELLP Syndrome

  However, mothers pregnant with babies homozygous for the deficiency often have problems including anorexia, vomiting, abdominal pain, and jaundice during the third trimester of pregnancy (HELLP syndrome). [emilytam.com]

  Pediatr-Res. 2001 Jan; 49(1): 18-23 den-Boer,-M-E; Ijlst,-L; Wijburg,-F-A; Oostheim,-W; van-Werkhoven,-M-A; van-Pampus,-M-G; Heymans,-H-S; Wanders,-R-J Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the [malattierare.regione.veneto.it]

  The mother seems an unlikely source because this would imply that HELLP syndrome and AFLP should occur in metabolically stressed nonpregnant female and male heterozygotes. [nature.com]

  (PMID: 7918661) Zhang QX … Baldwin GS (Biochimica et biophysica acta 1994) 2 3 4 22 60 Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome. [genecards.org]

  […] unsaturated C16–C18 acylcarnitine esters, elevated urinary C6–C14 3-hydroxydicarboxylic acids Clinical features: Fasting-induced hypoketotic hypoglycemia, exercise-induced rhabdomyolysis, cardiomyopathy, cholestatic liver disease, retinopathy, maternal HELLP [merckmanuals.com]

• Anemia

  New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference [books.google.com]

  […] encephalopathy of acute onset, fatty degeneration of the liver, sudden death in infancy, skeletal myopathy, lactic acidosis, retinal pigmentary changes, hypertrophic cardiomyopathy of varying intensity, and sensory-motor polyneuropathy, chronic severe anemia [medical-dictionary.thefreedictionary.com]

  Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. ‎ Página 397 - Gly Lys Lys Val Leu Gly Ala Phe Ser Asp Gly Leu Ala His Leu Asp Asn Leu Lys Gly Thr NO. ‎ [books.google.es]

  It usually presents in the newborn period with marked metabolic acidosis, hemolytic anemia, electrolyte imbalance, and jaundice. [genico.ch]

  Chronic hemolytic anemia and delayed CNS myelination have also been reported. [9] Epidemiology Frequency United States The incidence of isolated LCHAD activity deficiency and trifunctional protein deficiency is unknown in the United States. [emedicine.medscape.com]

• Fatigue

  If fatigue or muscle pain ensues, rest, extra fluid and carbohydrate-containing snacks are encouraged. [gmdi.org]

  The first symptoms of hypoglycemia are: extreme sleepiness or fatigue weakness nausea vomiting irritability or jitteriness behavior changes If hypoglycemia is not treated, a child with LCHADD can develop: breathing problems swelling of the brain seizures [newbornscreening.info]

  These patients have hypoketotic hypoglycemia, hepatomegaly, recurrent “infections”, and easy fatigue resulting in recurrent sore muscles. Some present with exercise-induced rhabdomyolysis. [genico.ch]

• Sudden Infant Death Syndrome

  In the past, LCHADD was not often diagnosed until a baby was very sick or after they passed away from apparent Sudden Infant Death Syndrome (SIDS). Now testing at birth (newborn screening) happens in all states in the United States for LCHADD. [thinkgenetic.com]

  Fatty liver is noted at autopsy, often leading to a misdiagnosis of Reye’s syndrome or Sudden Infant Death Syndrome (SIDS) in an infant. [genico.ch]

• Failure to Thrive

  LCHAD deficiency is usually diagnosed in infancy or early childhood, when the affected individual presents with symptoms such as vomiting, low blood sugar, lack of energy, muscle weakness, liver problems, and failure to thrive. [nxgenmdx.com]

  Eleven patients (22%) presented with chronic problems, consisting of failure to thrive, feeding difficulties, cholestatic liver disease, and/or hypotonia. [pediatrics.aappublications.org]

  The variable presentation includes infantile hypoketotic hypoglycemia, vomiting, lethargy, hypotonia, and failure to thrive. [genedx.com]

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Intellectual disability Mental deficiency Mental [rarediseases.info.nih.gov]

• Muscle Hypotonia

  These problems include problems eating, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscles (hypotonia), liver problems, and eye problems (retina). [thinkgenetic.com]

  Patients have hypotonia, progressive muscle weakness, developmental delay and, possibly seizures. Failure to thrive, vomiting, and hypoglycemia may be seen. [genico.ch]

• Neonatal Hypotonia

  hypotonia, respiratory acidosis Treatment: Not established [merckmanuals.com]

• Delayed Milestone

  As an alternate presentation, an affected infant may be delayed in achieving early motor milestones and appear irritable, jittery, hypotonic, and have impaired voluntary movements. [genico.ch]

Workup of such patients includes measuring plasma amino acids and looking for succinylacetone on urine organic acid analysis. [genico.ch]

• Hypoketotic Hypoglycemia

  Elevated saturated and unsaturated C14–C18 acylcarnitine esters, elevated urinary C6–C14 dicarboxylic acids Clinical features: In the VLCAD-C type, arrhythmia, hypertrophic cardiomyopathy, sudden death In the VLCAD-H type, recurrent hypoketotic hypoglycemia [merckmanuals.com]

  Treatment : It is important to avoid fasting to prevent hypoketotic hypoglycemia. A low fat, high carbohydrate diet, MCA oils, essential oil supplementation (linoleic and linolenic acid) and carnitine have been used for treatment. [emilytam.com]

  A common characteristic of all these cases (except those involving short-chain and, on occasions, medium-chain) is hypoketotic hypoglycemia with fasting. [revespcardiol.org]

  It presents during infancy or early childhood, and is characterized by hypoketotic hypoglycemia, cardiomyopathy, hypotonia, and hepatomegaly. [cags.org.ae]

  Thirty-nine patients (78%) presented with hypoketotic hypoglycemia, the classical features of a fatty acid oxidation disorder. [pediatrics.aappublications.org]

• Fasting Hypoglycemia

  […] intolerance, hypoketotic hypoglycemia, hepatomegaly, seizures, coma, elevated creatine kinase Treatment: Avoidance of fasting; frequent feeding; during acute episodes, high-dose glucose; replacement of long-chain dietary fat with medium-chain fat Carnitine [merckmanuals.com]

Treatment Open Treatment for LCHAD and TFP is started as early as possible and is usually life long. [newbornscreening.on.ca]

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis. 2009 Aug;32(4):498-505. Published data on treatment of fatty acid oxidation defects are scarce. [pediatricfocus.wordpress.com]

Transport to hospital for further treatment in consultation with pediatric metabolic specialist. Call 501-364-4050 to speak with the Newborn Screening Coordinator. Make sure baby is fed every 3 hours. [archildrens.org]

If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment. [babysfirsttest.org]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

Many patients still suffer acute life-threatening events or long-term neuropathic symptoms despite adequate treatment, and newborn screening has not significantly changed the prognosis for these severe phenotypes. [pediatricfocus.wordpress.com]

J Inherit Metab Dis 32:488–497 CrossRef PubMed Spiekerkoetter U, Sykut-Cegielska J (2007) Prognosis and treatment of LCHAD deficiency. [springermedizin.de]

You can help by adding to it. ( February 2017 ) Prognosis [ edit ] A 2001 study followed up on 50 patients. [en.wikipedia.org]

Prognosis Prognosis varies depending on whether there is LCHADD alone or TFP deficiency. Symptoms (mild to severe) may begin at birth or take a few years to present. [medicalhomeportal.org]

Adding to the devastation, we learned that a simple newborn screening test not only would have saved Nora's life, but her prognosis would have been excellent! [savebabies.org]

The etiology of the severe peripheral neuropathy of trifunctional protein deficiency may result from the unique metabolite, 3-keto-acyl-CoA, after conversion to a methylketone via spontaneous decarboxylation. [emedicine.medscape.com]

This infant had concurrent HIV infection, so that it was difficult to define the etiology of the liver disease, although the introduction of a low-fat diet resulted in a marked improvement in the child’s clinical status. [nature.com]

The etiology in 70 to 80% of the non-familial cases is unknown. [genico.ch]

"Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review". Genet Med 1 (7): 332–9. PMID 11263545. [en.academic.ru]

Relevant External Links for HADHA Genetic Association Database (GAD) HADHA Human Genome Epidemiology (HuGE) Navigator HADHA Atlas of Genetics and Cytogenetics in Oncology and Haematology: HADHA No data available for Genatlas for HADHA Gene Structures [genecards.org]

Chronic hemolytic anemia and delayed CNS myelination have also been reported. [9] Epidemiology Frequency United States The incidence of isolated LCHAD activity deficiency and trifunctional protein deficiency is unknown in the United States. [emedicine.medscape.com]

Besides epidemiological data (Table 1 ), we evaluated: growth, short and long-term complications, number of hospital admissions and length of stay (in days per year); creatine kinase concentrations (peak levels) as a marker for rhabdomyolysis, and two [ojrd.biomedcentral.com]

Pathophysiology The molecular defect occurs in the mitochondrial trifunctional protein (MTP). [emedicine.medscape.com]

Whether or not the accumulation of long chain acyl carnitines, observed in LCHAD deficiency, are involved in the pathophysiology of the retinal dystrophy is subject to further investigation. [bjo.bmj.com]

Pathophysiology Individuals with only one mutation in the genes for MTP (heterozygous) do not come to clinical attention because one normal gene apparently produces enough enzyme activity for catabolizing fatty acids, even in times of metabolic stress [nature.com]

The pathophysiology and molecular biology vary among different forms of SCID, however, the lack of T-cell and B-cell function is the common endpoint in all forms of SCID. [genico.ch]

Screening and treatment aim to prevent metabolic crises and other symptoms and help children with LCHAD and TFP to lead the healthiest lives possible. [newbornscreening.on.ca]

The Glu474Gln mutation and other amino acid substitutions likely to alter the structure of the alpha subunit, preventing normal operation. Other mutations result in an abnormally short, nonfunctional version of the alpha subunit. [ivami.com]

It prevents the body from properly turning fats into energy. The clinical presentation is highly variable. Symptoms most commonly begin in infancy or early childhood with low blood sugar, lethargy, low muscle tone, liver disease, and heart problems. [sema4genomics.com]

During acute illnesses, it may be necessary to admit such a patient for close monitoring and IV glucose to prevent hypoglycemia. [emilytam.com]

Disease Explained: LCHAD deficiency is an inherited metabolic disorder that prevents the body from converting certain types of fats into energy. [nxgenmdx.com]